Works matching IS 03406717 AND DT 2001 AND VI 109 AND IP 2

Results: 16

Linkage and association to candidate regions in Swedish atopic dermatitis families.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 129, doi. 10.1007/s004390100556

By:

Söderhäll, Cilla;
Bradley, Maria;
Kockum, Ingrid;
Wahlgren, Carl-Fredrik;
Luthman, Holger;
Nordenskjóld, Magnus

Publication type:

Article

The polyglutamine motif is highly conserved at the Clock locus in various organisms and is not polymorphic in humans.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 136, doi. 10.1007/s004390100550

By:

Saleem, Quasar;
Anand, Anuranjan;
Jain, Sanjeev;
Brahmachari, Samir K.

Publication type:

Article

Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 210, doi. 10.1007/s004390100552

By:

Suzuki, Makoto;
West, Carol;
Beutler, Ernest

Publication type:

Article

AcroM fluorescent in situ hybridization analyses of marker chromosomes.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 152, doi. 10.1007/s004390100571

By:

Langer, Sabine;
Fauth, Christine;
Rocchi, Mariano;
Murken, Jan;
Speicher, Michael R.

Publication type:

Article

The Basques according to polymorphic Alu insertions.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 224, doi. 10.1007/s004390100544

By:

de Pancorbo, M. M.;
López-Martínez, M.;
Martínez-Bouzas, C.;
Castro, A.;
Fernández-Fernández, I.;
Antúnez de Mayolo, G.;
Antúnez de Mayolo, A.;
Antúnez de Mayolo, P.;
Rowold, D.;
Herrera, R.

Publication type:

Article

Combined segregation-linkage analysis of plasma thrombin activatable fibrinolysis inhibitor (TAFI) antigen levels with TAFI gene polymorphisms.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 191, doi. 10.1007/s004390100558

By:

Trégouet, D.-A.;
Aubert, H.;
Henry, M.;
Morange, P.;
Visvikis, S.;
Juhan-Vague, I.;
Tiret, L.

Publication type:

Article

Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 159, doi. 10.1007/s004390100570

By:

Paschke, Eduard;
Milos, Ivica;
Kreimer-Erlacher, Heidemarie;
Hoefler, Gerald;
Beck, Michael;
Hoeltzenbein, Maria;
Kleijer, Wim;
Levade, Thierry;
Michelakakis, Helen;
Radeva, B.

Publication type:

Article

Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 146, doi. 10.1007/s004390100563

By:

Smith, Wendy M.;
Zhou, Xiao-Ping;
Kurose, Keisuke;
Gao, Xin;
Latif, Farida;
Kroll, Todd;
Sugano, Kokichi;
Cannistra, Stephen A.;
Clinton, Steven K.;
Maher, Eamonn R.;
Prior, Thomas W.;
Eng, Charis

Publication type:

Article

Identification and characterization of a tissue-specific silencer element in the first intron of the human acid maltase gene.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 186, doi. 10.1007/s004390100562

By:

Yan, Bo;
Raben, Nina;
Lu, Nina;
Plotz, Paul H.

Publication type:

Article

A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 234, doi. 10.1007/s004390100551

By:

Noack, Deborah;
Heyworth, Paul G.;
Kyono, Wade;
Cross, Andrew R.

Publication type:

Article

Recombination in the pseudoautosomal region in a 47,XYY male.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 143, doi. 10.1007/s004390100566

By:

Martin, Renée H.;
Shi, Qinghua;
Field, Leigh L.

Publication type:

Article

Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 216, doi. 10.1007/s004390100564

By:

Willett-Brozick, Joan E.;
Savul, Shazia A.;
Richey, Lauren E.;
Baysal, Bora E.

Publication type:

Article

Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 178, doi. 10.1007/s004390100539

By:

Küry, Sébastien;
Devilder, Marie-Claire;
Avet-Loiseau, Hervé;
Dreno, Brigitte;
Moisan, Jean-Paul

Publication type:

Article

Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer.

Published in:

2001

By:

Qing Gao;
Tomlinson, Gail;
Das, Soma;
Cummings, Shelly;
Sveen, Lise;
Fackenthal, James;
Schumm, Phil;
Olopade, Olufunmilayo I.

Publication type:

Erratum

Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 198, doi. 10.1007/s004390100557

By:

Angius, Andrea;
Melis, Paola M.;
Morelli, Laura;
Petretto, Enrico;
Casu, Giuseppina;
Maestrale, Giovanni;
Fraumene, Cristina;
Bebbere, Daniela;
Forabosco, Paola;
Pirastu, Mario

Publication type:

Article

The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 167, doi. 10.1007/s004390100560

By:

Tapia-Páez, I.;
Kost-Alimova, M.;
Hu, P.;
Roe, B.;
Blennow, E.;
Fedorova, L.;
Imreh, S.;
Dumanski, J.

Publication type:

Article